The KCNQ1 gene mutations associated with short QT syndrome change single amino acids in the KCNQ1 protein. The mutations alter the function of ion channels made with the KCNQ1 protein, increasing the channels' activity.

2017年10月11日 · In this study, we sought to develop a protein-specific algorithm capable of accurately predicting functional consequences of KCNQ1 variants. We first curated a set of functionally validated KCNQ1 variants. We then trained a neural network-based, KCNQ1-specific genotype−channel function relationship predictor Q1VarPred.

2007年4月30日 · In the present study involving 600 patients having a spectrum of KCNQ1 mutations derived from 3 long-QT syndrome registries, we found that cardiac event rates are increased significantly in patients with mutations located in the transmembrane region of the potassium channel and in patients with mutations having a putative dominant-negative ...

2018年3月7日 · Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS). Hundreds of KCNQ1 mutations have been identified, but the molecular mechanisms responsible for impaired function are poorly understood. We ...

This study describes the genotype–phenotype characteristics in 10 families with mutations of KCNQ1, including 5 novel mutations. One hundred and two families with a history of lethal cardiac events, 55 LQTS, 9 Brugada syndrome, 18 idiopathic ventricular fibrillation (IVF), and 20 acquired LQTS, were studied by single-strand conformational ...

2021年12月16日 · KCNQ1 S6 segment mutations surrounding p.A341 increase arrhythmic risk. Perspective: LQT1 is caused by loss-of-function mutations in the KCNQ1 gene, affecting the slowly activating delayed-rectifier K + current I Ks .

2019年1月12日 · KCNQ1 (potassium voltage-gated channel subfamily Q member 1), the major gene involved in long QT syndrome (LQTS), is part of the imprinted gene cluster that is associated with Beckwith–Wiedemann...

Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others.

2009年5月22日 · We examined the electrophysiological properties of the 9 KCNQ1 mutations in the presence KCNE1 by heterologous expression in Chinese hamster ovary cells and by using a whole-cell voltage clamp.

Autosomal recessive Long QT syndrome is characterized by prolonged QTc along with congenital bilateral deafness depends on mutations in K + channel genes. A family of a Long QT syndrome proband from India has been identified with novel indel variations. The molecular study of the proband revealed 4 novel indel variations in KCNQ1.